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Page 1
Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.
Uddin M, Pellecchia G, Thiruvahindrapuram B, D'Abate L, Merico D, Chan A, Zarrei M, Tammimies K, Walker S, Gazzellone MJ, Nalpathamkalam T, Yuen RK, Devriendt K, Mathonnet G, Lemyre E, Nizard S, Shago M, Joseph-George AM, Noor A, Carter MT, Yoon G, Kannu P, Tihy F, Thorland EC, Marshall CR, Buchanan JA, Speevak M, Stavropoulos DJ, Scherer SW. Uddin M, et al. Among authors: tihy f. Sci Rep. 2016 Jul 1;6:28663. doi: 10.1038/srep28663. Sci Rep. 2016. PMID: 27363808 Free PMC article.
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.
Chénier S, Yoon G, Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, Ogilvie CM, Lionel AC, Marshall CR, Vaags AK, Hashemi B, Boisvert K, Mathonnet G, Tihy F, So J, Scherer SW, Lemyre E, Stavropoulos DJ. Chénier S, et al. Among authors: tihy f. J Neurodev Disord. 2014;6(1):9. doi: 10.1186/1866-1955-6-9. Epub 2014 Apr 22. J Neurodev Disord. 2014. PMID: 24834135 Free PMC article.
Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada.
Armour CM, Dougan SD, Brock JA, Chari R, Chodirker BN, DeBie I, Evans JA, Gibson WT, Kolomietz E, Nelson TN, Tihy F, Thomas MA, Stavropoulos DJ; On-Behalf-Of the Canadian College of Medical Geneticists. Armour CM, et al. Among authors: tihy f. J Med Genet. 2018 Apr;55(4):215-221. doi: 10.1136/jmedgenet-2017-105013. Epub 2018 Mar 1. J Med Genet. 2018. PMID: 29496978 Free PMC article.
Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples.
Huguet G, Schramm C, Douard E, Jiang L, Labbe A, Tihy F, Mathonnet G, Nizard S, Lemyre E, Mathieu A, Poline JB, Loth E, Toro R, Schumann G, Conrod P, Pausova Z, Greenwood C, Paus T, Bourgeron T, Jacquemont S; IMAGEN Consortium. Huguet G, et al. Among authors: tihy f. JAMA Psychiatry. 2018 May 1;75(5):447-457. doi: 10.1001/jamapsychiatry.2018.0039. JAMA Psychiatry. 2018. PMID: 29562078 Free PMC article.
28 results